A review of executive function deficits in autism spectrum disorder and attention-deficit/hyperactivity disorder Francesco Craig,1 Francesco Margari,2 Anna R Legrottaglie,1 Roberto Palumbi,1 Concetta de Giambattista,1 Lucia Margari1 1Child Neuropsychiatry Unit, 2Psychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This article reviewed 26 studies that examined executive function comparing ASD and/or ADHD children. In light of findings from this review, the ASD + ADHD group appears to share impairment in both flexibility and planning with the ASD group, while it shares the response inhibition deficit with the ADHD group. Conversely, deficit in attention, working memory, preparatory processes, fluency, and concept formation does not appear to be distinctive in discriminating from ASD, ADHD, or ASD + ADHD group. On the basis of neurocognitive endophenotype, the common co-occurrence of executive function deficits seems to reflect an additive comorbidity, rather than a separate condition with distinct impairments. Keywords: executive function, autism spectrum disorder, attention-deficit/hyperactivity disorder, ASD + ADHD, neurocognitive endophenotype

Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. Using a candidate gene approach, we identified a causative deletion of 4 highly conserved amino acids (Q282_S285del) in the pore region of the glucose transporter 1 (GLUT1). Functional studies in Xenopus oocytes and human erythrocytes revealed that this mutation decreased glucose transport and caused a cation leak that alters intracellular concentrations of sodium, potassium, and calcium. We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1.

Recent studies support several overlapping traits between autism spectrum disorders (ASD) and attention‐deficit/hyperactivity disorder (ADHD), assuming the existence of a combined phenotype. The aim of our study was to evaluate the common or distinctive clinical features between ASD and ADHD in order to identify possible different phenotypes that could have a clinical value. We enrolled 181 subjects divided into four diagnostic groups: ADHD group, ASD group, ASD+ADHD group (that met diagnostic criteria for both ASD and ADHD), and control group. Intelligent quotient (IQ), emotional and behavior problems, ADHD symptoms, ASD symptoms, and adaptive behaviors were investigated through the following test: Wechsler Intelligence Scale for Children, Wechsler Preschool and Primary Scale of Intelligence or Leiter International Performances Scale Revised, Child Behavior Checklist, Conners' Rating Scales‐Revised, SNAP‐IV Rating Scale, the Social Communication Questionnaire, Vineland Adaptive Behavior Scales. The ASD+ADHD group differs from ADHD or ASD in some domains such as lower IQ mean level and a higher autistic symptoms severity. However, the ASD+ADHD group shares inattention and hyperactivity deficit and some emotional and behavior problems with the ADHD group, while it shares adaptive behavior impairment with ASD group. These findings provide a new understanding of clinical manifestation of ASD+ADHD phenotype, they may also inform a novel treatment target. Autism Res 2015, 8: 328–337. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

Learning Disorders (LD) are complex diseases that affect about 2-10% of the school-age population. We performed neuropsychological and psychopathological evaluation, in order to investigate comorbidity in children with LD.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social and communication skills and repetitive and restrictive behaviors. Children and adolescents with ASD are more likely to present feeding problems than their typically developing peers are. The present narrative review of literature aims to highlight the most recent evidence about epidemiology and presentations of eating and mealtime behavioral abnormalities in ASD from infancy to adolescence. Abnormalities in breastfeeding and acceptance of complementary foods have been described by most of the studies evaluating ASD early feeding history. Among the various eating and mealtime behaviors identified in ASD children and adolescents, the most common was food selectivity. The present review also provides brief overviews of the various aspects of food that may influence food acceptance by ASD patients and of the correlation between eating problems and ASD core symptoms, as well as with cognitive level, language skills, and family environment. However, studies evaluating eating problems in ASD children and adolescents are very heterogeneous and they show methodological differences. Moreover, the absence of unique definitions of eating and mealtime behaviors in ASD further limits the comparability of studies.